| 基因名 | 突变 |
|---|---|
| PLEC(NM_201380,plectin,4684aa) | g.8:144996905G>A,c.7603C>T,p.R2535C |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996904C>T,c.7604G>A,p.R2535H |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996838G>A,c.7670C>T,p.T2557M |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996830C>T,c.7678G>A,p.A2560T |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996757C>T,c.7751G>A,p.R2584H |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996727C>T,c.7781G>A,p.R2594H |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996714C>A,c.7794G>T,p.K2598N |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996167C>T,c.8233G>A,p.A2745T |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996166G>A,c.8234C>T,p.A2745V |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996100C>T,c.8300G>A,p.R2767Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996038G>A,c.8362C>T,p.R2788W |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996037C>T,c.8363G>A,p.R2788Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144996029A>G,c.8371T>C,p.S2791P |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995977C>T,c.8423G>A,p.R2808Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995956G>A,c.8444C>T,p.T2815M |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995939G>A,c.8461C>T,p.R2821W |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995938C>T,c.8462G>A,p.R2821Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995935C>T,c.8465G>A,p.R2822Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995878T>G,c.8522A>C,p.K2841T |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995749C>T,c.8651G>A,p.R2884Q |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995579G>A,c.8821C>T,p.R2941C |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995500T>C,c.8900A>G,p.Y2967C |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995494C>T,c.8906G>A,p.R2969H |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995483C>T,c.8917G>A,p.D2973N |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995480C>T,c.8920G>A,p.E2974K |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995477C>T,c.8923G>A,p.E2975K |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995444C>T,c.8956G>A,p.D2986N |
| PLEC(NM_201380,plectin,4684aa) | g.8:144995372C>T,c.9028G>A,p.E3010K |